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The restricted use of immunoglobulin heavy chain variable (IGHV) family 4 gene segments by clonally expanded B cells in brain lesions and cerebrospinal fluid (CSF) of multiple sclerosis (MS) patients is well documented. Specifically, the overrepresentation of gene IGHV4-39 has been highlighted in multiple studies. To investigate the role of IGHV4-39 in MS, we screened 193 MS cases, representing the extremes of clinical outcome (benign and malignant), and 187 controls for a previously reported germline deletion polymorphism containing IGHV4-39. We did not reveal a genetic association linking this polymorphism to MS risk or progression.

Original publication

DOI

10.1016/j.jneuroim.2010.04.012

Type

Journal article

Journal

J Neuroimmunol

Publication Date

25/08/2010

Volume

225

Pages

164 - 166

Keywords

Female, Genetic Predisposition to Disease, Genotype, Humans, Immunoglobulin Heavy Chains, Immunoglobulin Variable Region, Male, Multiple Sclerosis, Polymorphism, Genetic, Sequence Deletion